PABPC5 and Attention Deficit Hyperactivity Disorder, Inattentive Type

In a recent report (PMID:23894120), a microduplication on Xq21.31 encompassing PABPC5 (HGNC:13629) was identified in a male patient manifesting Tourette syndrome, attention deficit hyperactivity disorder, inattentive type (MONDO_0005302) and obsessive compulsive disorder. In this family, the Xq21.31 duplication was detected in the proband as well as in two additional affected brothers, indicating segregation of the variant with the neuropsychiatric phenotype. Although the study also reported a separate 15q13.3 duplication involving CHRNA7, the evidence for PABPC5 was driven solely by its inclusion in the Xq21.31 CNV, underscoring an association that is so far limited to a single multi‐patient study.

No functional or experimental studies were performed to characterize the pathogenic mechanism by which PABPC5 might influence ADHD inattentive type, thereby limiting the depth of mechanistic insight. Nonetheless, the segregation of the duplication among affected family members provides preliminary genetic evidence that may inform diagnostic decision‑making, commercial assay development and subsequent research. Further studies are warranted to validate and clarify the contribution of PABPC5 to the ADHD inattentive type phenotype.

References

• American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics • 2013 • Microduplication of 15q13.3 and Xq21.31 in a family with Tourette syndrome and comorbidities PMID:23894120

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